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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PFN3
profilin 3
Chromosome 5 · 5q35.3
NCBI Gene: 345456Ensembl: ENSG00000196570.3HGNC: HGNC:18627UniProt: P60673
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
actin bindingregulation of actin filament polymerizationpositive regulation of actin filament bundle assemblycytoplasmazoospermiaspermatogenic failure 51spermatogenic failure 54spermatogenic failure, X-linked, 3
✦AI Summary

PFN3 (profilin 3) is an intron-less gene encoding an actin-binding protein that regulates cytoskeletal structure 1. As a testis-specific profilin isoform, PFN3 localizes to the acroplaxome-manchette complex and Golgi complex during spermiogenesis 23. PFN3 binds actin, poly-L-proline, and phosphoinositides (PtdIns(3)P, PtdIns(4,5)P2, PtdIns(4)P), but with distinct binding affinities compared to somatic profilin isoforms 3. PFN3 is essential for male fertility through its roles in acrosome biogenesis, manchette development, and proper mitochondrial organization 2. Loss of PFN3 causes subfertility with type II globozoospermia, characterized by abnormal sperm head morphology and reduced motility 2. PFN3 disruption impairs autophagy by dysregulating the AMPK/mTOR pathway and destabilizes the PFN3-ARPM1 complex 2. Beyond reproduction, PFN3 shows dysregulated transcriptional expression in gliomas, suggesting potential involvement in brain tumor malignancy 1. Additionally, genetic variants near the PFN3 locus (5q35.3) associate with nephrolithiasis susceptibility in genome-wide association studies 4. PFN3 also exhibits tissue-specific DNA methylation patterns useful for semen identification in forensic applications 56.

Sources cited
1
PFN3 is an intron-less actin-binding protein affecting cytoskeleton structure; shows dysregulated expression in gliomas and potential correlation with brain tumor malignancy
PMID: 33775850
2
PFN3 localizes in Golgi and proacrosomal vesicles; essential for acrosome biogenesis, manchette development, and mitochondrial organization; loss causes subfertility and globozoospermia through AMPK/mTOR autophagy dysregulation
PMID: 34869336
3
PFN3 is testis-specific; binds actin, phosphoinositides, and poly-L-proline with distinct affinities; localizes to acroplaxome-manchette complex in spermatids
PMID: 19419568
4
PFN3 locus at 5q35.3 associates with nephrolithiasis susceptibility with significant meta-analysis results
PMID: 23719187
5
PFN3 tissue-specific differentially methylated regions show varying methylation across body fluids, useful for forensic identification
PMID: 21626087
6
PFN3 tDMR methylation patterns can identify semen and differentiate body fluids in forensic analysis
PMID: 22653424
Disease Associationsⓘ20
azoospermiaOpen Targets
0.11Weak
spermatogenic failure 51Open Targets
0.10Weak
spermatogenic failure 54Open Targets
0.10Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.10Suggestive
spermatogenic failure 20Open Targets
0.10Suggestive
spermatogenic failure 40Open Targets
0.10Suggestive
spermatogenic failure 76Open Targets
0.10Suggestive
spermatogenic failure 80Open Targets
0.10Suggestive
spermatogenic failure 39Open Targets
0.10Suggestive
spermatogenic failure 47Open Targets
0.10Suggestive
spermatogenic failure 65Open Targets
0.10Suggestive
spermatogenic failure 8Open Targets
0.10Suggestive
spermatogenic failure 84Open Targets
0.10Suggestive
spermatogenic failure 93Open Targets
0.10Suggestive
spermatogenic failure 72Open Targets
0.10Suggestive
spermatogenic failure 10Open Targets
0.10Suggestive
spermatogenic failure 11Open Targets
0.10Suggestive
spermatogenic failure 24Open Targets
0.09Suggestive
spermatogenic failure 56Open Targets
0.09Suggestive
spermatogenic failure 92Open Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FLNAProtein interaction100%WASLProtein interaction98%ACTBProtein interaction97%ACTG1Protein interaction97%CFL1Protein interaction97%CFL2Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
25%
Heart
0%
Lung
0%
Ovary
0%
Brain
0%
Gene Interaction Network
Click a node to explore
PFN3FLNAWASLACTBACTG1CFL1CFL2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P60673
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.24 [0.69–1.88]
RankingsWhere PFN3 stands among ~20K protein-coding genes
  • #16,533of 20,598
    Most Researched12
  • #17,121of 17,882
    Most Constrained (LOEUF)1.88
Genes detectedPFN3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Profilin 3 genetic architecture in glioma formalin fixed paraffin embedded (FFPE) archive.
PMID: 33775850
Gene · 2021
1.00
2
Loss of Profilin3 Impairs Spermiogenesis by Affecting Acrosome Biogenesis, Autophagy, Manchette Development and Mitochondrial Organization.
PMID: 34869336
Front Cell Dev Biol · 2021
0.90
3
Natural antisense transcription from a comparative perspective.
PMID: 27241791
Genomics · 2016
0.80
4
A replication study for three nephrolithiasis loci at 5q35.3, 7p14.3 and 13q14.1 in the Japanese population.
PMID: 23719187
J Hum Genet · 2013
0.70
5
Testis-expressed profilins 3 and 4 show distinct functional characteristics and localize in the acroplaxome-manchette complex in spermatids.
PMID: 19419568
BMC Cell Biol · 2009
0.60